RGD:8626397 Rat Genome Database

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Variant: RGD:8626397 -  Homo sapiens

RGD ID: 8626397
ClinVar ID: CV81541
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127408688  NFE2L3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 26,192,231
GRCh38 7 26,152,611
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004289.6:c.113C>T
NC_000007.14:g.26152611C>T
NC_000007.13:g.26192231C>T
NP_004280.5:p.Pro38Leu
More... 		missense|missense variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:NFE2L3
Accession:NM_004289
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKHLKRWWSAGGGLLHLTLLLSLAGLRVDLDLYLLLPLPTLLQDELLFLGGPASSAYALSPFSASGGWGRAGHLHPKGRE
LDPAAPPEGQLLREVRALGVPFVPRTSVDAWLVHSVAAGSADEAHGLLGAAAASSTGGAGASVDGGSQAVQGGGGDPRAA
RSGPLDAGEEEKAPAEPTAQVPDAGGCASEENGVLREKHEAVDHSSQHEENEERVSAQKENSLQQNDDDENKIAEKPDWE
AEKTTESRNERHLNGTDTSFSLEDLFQLLSSQPENSLEGISLGDIPLPGSISDGMNSSAHYHVNFSQAISQDVNLHEAIL
LCPNNTFRRDPTARTSQSQEPFLQLNSHTTNPEQTLPGTNLTGFLSPVDNHMRNLTSQDLLYDLDINIFDEINLMSLATE
DNFDPIDVSQLFDEPDSDSGLSLDSSHNNTSVIKSNSSHSVCDEGAIGYCTDHESSSHHDLEGAVGGYYPEPSKLCHLDQ
SDSDFHGDLTFQHVFHNHTYHLQPTAPESTSEPFPWPGKSQKIRSRYLEDTDRNLSRDEQRAKALHIPFSVDEIVGMPVD
SFNSMLSRYYLTDLQVSLIRDIRRRGKNKVAAQNCRKRKLDIILNLEDDVCNLQAKKETLKREQAQCNKAINIMKQKLHD
LYHDIFSRLRDDQGRPVNPNHYALQCTHDGSILIVPKELVASGHKKETQKGKRK*
Variant Samples